Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transporter für dibasische Aminosäuren

Das SLC3A2-Gen kodiert einen Aminosäuretransporter für dibasische und neutrale Aminosäuren, der auch in der Niere exprimiert wird und dessen klinische Bedeutung noch bestimmt werden muss.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Aminoazidurie
Cystinurie
SLC3A1
SLC7A9
Dicarboxyl-Aminoazidurie
SLC1A1
Erythrocyten-Lactat-Transporter-Mangel
SLC16A1
Fanconi-Bickel-Syndrom
SLC2A2
Fanconi-Syndrom
Autosomal dominantes idiopathisches Fanconi-Syndrom
HNF4A
Fanconi-Syndrom Typ 1
Fanconi-Syndrom Typ 2
SLC34A1
Fanconi-Syndrom Typ 3
EHHADH
Hartnup-Erkrankung
SLC6A19
Hyperglycinurie
SLC36A2
SLC6A19
SLC6A20
Iminoglycinurie
SLC36A2
SLC6A19
SLC6A20
Lysinurische Proteinintoleranz
SLC7A7
Monocarboxylate-Transporter 1 Mangel
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8

Referenzen:

1.

Courseaux A et. al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

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2.

Rochelle JM et. al. (1992) A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.

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3.

Michalak M et. al. (1986) Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal muscle sarcolemmal vesicles by monoclonal antibody 44D7.

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4.

Gottesdiener KM et. al. (1988) Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation.

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5.

Lindsten T et. al. (1988) Regulation of 4F2 heavy-chain gene expression during normal human T-cell activation can be mediated by multiple distinct molecular mechanisms.

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6.

Quackenbush E et. al. (1987) Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth.

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7.

Lumadue JA et. al. (1987) Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2.

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8.

Posillico JT et. al. (1987) Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid hormone secretion.

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9.

Hemler ME et. al. (1982) Characterization of antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines.

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10.

Peters PG et. al. (1982) Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen.

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11.

Francke U et. al. (1983) Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11.

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12.

Haynes BF et. al. (1981) Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes.

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13.

Mastroberardino L et. al. (1998) Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family.

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14.

Sato H et. al. (1999) Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins.

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15.

Feral CC et. al. (2005) CD98hc (SLC3A2) mediates integrin signaling.

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16.

Fogelstrand P et. al. (2009) Dependence of proliferative vascular smooth muscle cells on CD98hc (4F2hc, SLC3A2).

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17.

Cantor J et. al. (2011) Loss of T cell CD98 H chain specifically ablates T cell clonal expansion and protects from autoimmunity.

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